Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with e...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Marcella Nunziato [verfasserIn] Flavio Starnone [verfasserIn] Barbara Lombardo [verfasserIn] Matilde Pensabene [verfasserIn] Caterina Condello [verfasserIn] Francesco Verdesca [verfasserIn] Chiara Carlomagno [verfasserIn] Sabino De Placido [verfasserIn] Lucio Pastore [verfasserIn] Francesco Salvatore [verfasserIn] Valeria D’Argenio [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 18(2017), 11, p 2487
Übergeordnetes Werk:	volume:18 ; year:2017 ; number:11, p 2487

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/ijms18112487

Katalog-ID:	DOAJ048902926

Internformat


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650		4	\|a hereditary breast cancer
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allfields	10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487
spelling	10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487
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allfieldsGer	10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487
allfieldsSound	10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487
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source	In International Journal of Molecular Sciences 18(2017), 11, p 2487 volume:18 year:2017 number:11, p 2487
sourceStr	In International Journal of Molecular Sciences 18(2017), 11, p 2487 volume:18 year:2017 number:11, p 2487
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authorswithroles_txt_mv	Marcella Nunziato @@aut@@ Flavio Starnone @@aut@@ Barbara Lombardo @@aut@@ Matilde Pensabene @@aut@@ Caterina Condello @@aut@@ Francesco Verdesca @@aut@@ Chiara Carlomagno @@aut@@ Sabino De Placido @@aut@@ Lucio Pastore @@aut@@ Francesco Salvatore @@aut@@ Valeria D’Argenio @@aut@@
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callnumber-first	Q - Science
author	Marcella Nunziato
spellingShingle	Marcella Nunziato misc QH301-705.5 misc QD1-999 misc hereditary breast cancer misc BRCA2 misc large genomic rearrangements misc next generation sequencing misc aCGH misc Biology (General) misc Chemistry Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
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topic_title	QH301-705.5 QD1-999 Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH
topic	misc QH301-705.5 misc QD1-999 misc hereditary breast cancer misc BRCA2 misc large genomic rearrangements misc next generation sequencing misc aCGH misc Biology (General) misc Chemistry
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title	Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
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title_sort	fast detection of a brca2 large genomic duplication by next generation sequencing as a single procedure: a case report
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title_auth	Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
abstract	The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations.
abstractGer	The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations.
abstract_unstemmed	The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations.
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title_short	Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
url	https://doi.org/10.3390/ijms18112487 https://doaj.org/article/d6e3431536d14db093e6844177a038fe https://www.mdpi.com/1422-0067/18/11/2487 https://doaj.org/toc/1422-0067
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Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. 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Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

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